title: A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.
abstract: 17-β-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46,XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene have been reported, involving all exons except exon 1. Herein, we investigated an Egyptian female with 46,XY karyotype and low testosterone/Δ4-androstenedione ratio. Genomic DNA was extracted from blood samples, and then, direct DNA sequencing of HSD17B3 gene was performed. The patient had a homozygous mutation c.198G>A in exon 1 resulting in a stop codon (p.W50X). The study presents the first mutation to be reported in exon 1 of the HSD17B3 gene.
authors.affiliation: Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
authors.forename: H A
authors.initials: HA
authors.lastname: Hassan
authors.forename: I
authors.initials: I
authors.lastname: Mazen
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Gad
authors.forename: O S M
authors.initials: OS
authors.lastname: Ali
authors.forename: M
authors.initials: M
authors.lastname: Mekkawy
authors.forename: M L
authors.initials: ML
authors.lastname: Essawi
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D000735:Androstenedione / Q000097:blood; D001483:Base Sequence; D018389:Codon, Nonsense; D004247:DNA / Q000097:blood; D004534:Egypt; D005091:Exons / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D013739:Testosterone / Q000097:blood
chemical_list: D018389:Codon, Nonsense; D013739:Testosterone; D000735:Androstenedione; D004247:DNA; D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3